OR1D4 Gene: Olfactory Receptor Family 1 Subfamily D Member 4
A comprehensive biomedical overview of the OR1D4 gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | OR1D4 |
|---|---|
| Full Name | Olfactory Receptor Family 1 Subfamily D Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 8383 ncbi.nlm.nih.gov/gene/8383 |
| Ensembl ID | ENSG00000197536 |
| UniProt ID | P34982 |
| OMIM ID | 603036 |
| HGNC ID | 8192 |
| Aliases | OR17-4, OR1D4P, OR1D4Q |
Description
OR1D4 encodes an olfactory receptor protein belonging to the G protein-coupled receptor (GPCR) family. Olfactory receptors are primarily expressed in the olfactory epithelium and are involved in odorant detection and signal transduction. OR1D4 is also known to be expressed in other tissues, suggesting potential non-olfactory functions. The gene is located on chromosome 17p13.3 and is part of a large cluster of olfactory receptor genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 0.8 | Low |
| Skin | 0.5 | Low |
| Lung | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Very low |
| A549 | 0.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| rs61742177 | SNV | 0.1% (global) | Missense (p.Val191Ile); likely benign |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been reported in OR1D4.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • signal transduction | • detection of chemical stimulus involved in sensory perception of smell |
| • plasma membrane |
Pathways
• Olfactory transduction (KEGG: hsa04740)
• GPCR downstream signaling
Protein Summary
OR1D4 is a 312-amino acid protein with seven transmembrane domains, characteristic of GPCRs. It is involved in odorant recognition and activation of G protein-mediated signaling cascades. The protein is localized to the plasma membrane and may play a role in sperm chemotaxis, as suggested by its expression in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR1D4 Knockout HEK293 Cell Line | EDJ-KQ6228 | Human | 653166 | Details Get a Quote |
| OR1D4 Knockout A-549 Cell Line | EDJ-KQ30066 | Human | 653166 | Details Get a Quote |
| OR1D4 Knockout HCT 116 Cell Line | EDJ-KQ30067 | Human | 653166 | Details Get a Quote |
| OR1D4 Knockout HeLa Cell Line | EDJ-KQ30068 | Human | 653166 | Details Get a Quote |
